Canonical Allele Identifier: CA381066207

Gene: KCNK4 KCNK4-CATSPERZ

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64298178G>C , CM000673.2:g.64298178G>C	GRCh38
NC_000011.9:g.64065650G>C , CM000673.1:g.64065650G>C	GRCh37
NC_000011.8:g.63822226G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033310.3:c.730G>C (KCNK4) MANE Select	NP_201567.1:p.Ala244Pro
ENST00000422670.7:c.730G>C (KCNK4) MANE Select	ENSP00000402797.2:p.Ala244Pro
NM_001317090.1:c.730G>C (KCNK4)	NP_001304019.1:p.Ala244Pro
NM_001317090.2:c.730G>C (KCNK4)	NP_001304019.1:p.Ala244Pro
NM_033310.2:c.730G>C (KCNK4)	NP_201567.1:p.Ala244Pro
NR_133660.1:n.658G>C (KCNK4)
NR_133660.2:n.658G>C (KCNK4)
NR_133661.1:n.713G>C (KCNK4)
NR_133661.2:n.722G>C (KCNK4)
NR_133662.1:n.871G>C (KCNK4-CATSPERZ)
ENST00000394525.6:c.730G>C (KCNK4)	ENSP00000378033.2:p.Ala244Pro
ENST00000422670.6:c.730G>C (KCNK4)	ENSP00000402797.2:p.Ala244Pro
ENST00000453423.5:n.805G>C (KCNK4)
ENST00000536690.1:n.861G>C (KCNK4)
ENST00000538767.1:c.383G>C (KCNK4)	ENSP00000446454.1:p.Gly128Ala
ENST00000539216.1:c.730G>C (KCNK4)	ENSP00000444948.1:p.Ala244Pro
ENST00000539651.1:n.521G>C (KCNK4)
ENST00000541349.5:c.*105G>C (KCNK4)	ENSP00000441460.1:n.*105G>C
ENST00000696753.1:c.808G>C (KCNK4)	ENSP00000512851.1:p.Ala270Pro